Jerry R. Mendell, MD

• Neuromuscular Disorders
  Physician Team
• Neurosciences
  Director
• Neuromuscular Genetic Therapeutics Fellowship
  Program Co-Director
• Neurology
  Physician Team
• Center for Gene Therapy
  Principal Investigator
• Neurology Residency
  Faculty
• Primary Department
  Pediatrics
• Primary Section
  Neurology

• Juanita Curran and Dwight Peters Endowed Chair, 2010
• Distinguished Scholar Award, The Ohio State University, Presented by the President, 2009
• S. Mouchly Small Scientific Achievement Award, The Muscular Dystrophy Association for Significant Contributions to Neuromuscular Disease Research, 2004
• Listed, Best Doctors in America

The Mendell Lab is devoted to the development of potential treatments for neuromuscular diseases including Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD). DMD causes progressive muscle weakness that usually confines patients to a wheelchair in their early teens. Limb-girdle muscular dystrophies are a group of at least 13 diseases classified by their disease causing genes. It causes loss of muscle mass and strength in voluntary muscles, mainly those around the hips and shoulders. These diseases are caused by genetic defects that lead to missing or non-functional proteins. This makes gene replacement or gene therapy a good treatment option for these diseases. Our major research goal is successful gene therapy, by replacing genes for DMD and LGMD using adeno-associated virus (AAV) vectors to carry a copy of the corrected gene to the muscle cells. In some instances such as the dystrophin gene (the largest gene identified) “mini” and “micro” genes must be used. This can be done by direct injection into muscle (IM) or by way of the blood stream (vascular delivery). Muscular dystrophy can also be treated with follistatin by way of IM injection with adeno-associated virus (AAV) vectors to carry the follistatin gene in IBM and BMD. It inhibits myostatin, promoting muscle growth and preventing deterioration of existing muscle. Another therapeutic approach is exon skipping, treating primarily DMD, using synthetic molecules that induce skipping or read-through of the damaged portion of the dystrophin gene. This is a mutation-specific treatment with each molecule designed to skip a certain exon(s). This leads to restoration of the reading frame and production of an internally truncated partially functional dystrophin protein.In addition to developing potential treatments for neuromuscular diseases, the Mendell laboratory also concentrates on the diagnosis and characterization of neuromusclar diseases. The Mendell lab also serves as the diagnostic lab of muscle biopsies for the Anatomic Pathology Department of Nationwide Children’s Hospital. We are currently conducting a newborn screening study for DMD with The Research Institute at Nationwide Children's Hospital and Cincinnati Children's Hospital to identify possible cases in young males in the state of Ohio. The lab also has the resources of the United Dystrophinopathy Project (UDP) available for genetic screening and characterization of dystrophinopathies that cause DMD. The UDP directly sequences the coding and regulatory regions of the dystrophin gene, leading to faster and more specific characterization of mutations of many dystrophinopathy patients. The Mendell lab also has resources here at Nationwide Children's Hospital to identify and sequence other genes that cause muscular dystrophies.

Date of Appointment at Nationwide Children’s Hospital: 08/27/2004

1992 - 2004 Dept of Neurology, The Ohio State University, Chair

Pediatrics